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Disease/ Disorder

Definition

Benign Joint Hypermobility Syndrome (BJHS) is a syndrome characterized by the presence of musculoskeletal symptoms in subjects with joint hypermobility in the absence of systemic rheumatologic or connective tissue disease. Because BJHS’s variable phenotype often impairs quality of life and is not clearly “benign”, experts are increasingly using the term “joint hypermobility syndrome (JHS). JHS is distinct from local and generalized joint hypermobility (GJH), an asymptomatic and common finding involving increased range of motion at joints.

JHS is diagnosed as a syndrome in which joint hypermobility causes pain or joint dysfunction.

Etiology

There is no known specific biochemical or single genetic etiology to JHS. However, JHS has a clear genetic component with weak autosomal dominant inheritance pattern with variable penetrance.1,2

JHS is thought to result from abnormality or abnormal ratios of collagen subtypes and connective tissue matrix proteins. This contributes to loss of resistance to stretching of tissues surrounding joints and a host of other dermatologic and systemic findings.2-4

Epidemiology including risk factors and primary prevention

Asymptomatic GJH is common in children. Prevalence of GJH has been reported in 6.7-57% of children depending upon age, ethnicity and criteria used to determine hypermobility.5

JHS’s prevalence is estimated to be from 3% to 19.5%.2,6 It is difficult to determine true prevalance of JHS due to variable clinical presentations, absence of a confirmatory test, and the incorrect labeling of JHS without meeting full Brighton criteria. 5-7

The prevalence of GJH and JHS decrease with age, and both are more prevalent in females than in males.3,5,7,8 Hypermobility appears to be more prevalent in certain racial and ethnic groups, notably among West Africans, Indians, Chinese, and Native American subgroups, but there is wide variation in prevalence even between different communities of the same country.3,5,8

Increased hypermobility can confer advantage to some hobbies and competitive sports and has increased prevalence among those who pursue dance, gymnastics, swimming and track and field.2,8,9 Joint hypermobility is typically present in joints not directly exposed to stretching exercises, suggesting the hypermobility is hereditary and not acquired from participation in above activities.5,8

Patho-anatomy/physiology

Only a small proportion of people with GJH will also have JHS and its associated musculoskeletal pain and fatigue. This suggests there is a host of genetic and environmental factors that lead to JHS.2

A clear mechanism of JHS has not been demonstrated. It is proposed that excessive joint laxity leads to biomechanical imbalance at joint surfaces, with altered kinematics and local tissue loading leading to activity-related fatigue, arthralgia, myalgia, and tendinopathies.2,7,10 Other studies show that patients with JHS have impaired joint proprioception and decreased muscle mass which can further increase risk of injury to joints.2,5,7,11

Generalized hyperalgesia, chronic pain, and fatigue are a common finding in patients with JHS and thought to be mediated by centralized sensitization and CNS fatigue.2,12

Patients with JHS have higher rates of anxiety and depression thought to be related to pain-related fear, fear avoidance, and inadequate adaptation to physical and social consequences of the disease, although exact mechanisms are poorly studied.2,13 Many other findings with JHS including dysautonomia, gastrointestinal complaints, migraines, and bowel and bladder dysfunction have unclear mechanisms, but are thought to be related to connective tissue abnormalities.2

Disease progression including natural history, disease phases or stages, disease trajectory (clinical features and presentation over time)

JHS is a diagnosis of exclusion, and one must rule out inflammatory, infectious, rheumatologic, and hereditary connective tissue disorders (e.g., Marfan, Ehlers Danlos Syndrome [EDS], and osteogenesis imperfecta).

The Brighton criteria are the most frequently used clinical criteria for diagnosing JHS.3,5,12

JHS is diagnosed with the presence of

  • 2 major criteria,
  • 1 major criterion plus 2 minor criteria,
  • 4 minor criteria, or
  • 2 minor criteria with a positive family history of an unequivocally affected first-degree relative with JHS.1,5,7

Brighton 1998 Criteria

Major

  • Beighton score of 4/9 or greater (currently or historically)
  • Arthralgia for longer than 3 months in four or more joints

Minor

  • Beighton score of 1-3/9 if age greater than 50 years
  • Arthralgia for longer than 3 months in one to three joints; back pain for 3 months or more; or spondylosis, spondylolysis, or spondylolisthesis (the major criterion of arthralgia and this criterion are mutually exclusive)
  • Dislocation or subluxation in more than one joint, or in one joint on more than one occasion
  • Soft tissue rheumatism (e.g., epicondylitis, tenosynovitis, bursitis) in three or more locations
  • Marfanoid habitus
  • Abnormal skin (e.g., striae, hyperextensibility, thin skin, or papyraceous scarring)
  • Eye abnormalities (e.g., dropping eyelids, myopia, or anti-mongoloid slant)
  • Varicose veins, hernia, or uterine/rectal prolapse

Typically, joint laxity peaks in childhood and diminishes gradually during adolescence and into adulthood.1 JHS usually manifests itself in childhood, although symptoms may appear at any age.2 Hypermobility can present with other non-criteria features, including ability to put heels behind head, passively touch elbows behind the back, excessive internal rotation of the hip, excessive ankle dorsiflexion, or excessive eversion of the foot.1

  • new onset/acute
    • Most commonly, children present with complaints of recurrent joint pains, especially following physical activity or sports or at night.3,5 The pain tends to be dull and is typically self-limiting but sometimes lasts months or even years.1 Morning stiffness is not a common feature of JHS.1
    • There does not appear to be a specific pattern of joint involvement and may be symmetric or asymmetric, but weight-bearing joints liked the knees and ankles appear to be more commonly involved.2
    • Besides joint pains, patients may also present with enthesitis, bursitis, tenosynovitis, chondromalacia patellae, and rotator cuff problems.3,7
    • Other extraarticular manifestations include mitral valve prolapse, hernias, rectal and uterine prolapse, varicose veins, and high myopia.2,3,5,7
  • chronic/stable
    • Due to joint instability, patients with JHS are at increased risk of recurrent joint dislocations, subluxations and sprains.3
    • Most children and adolescents with low back pain simply have mechanical or postural pain and do not have JHS.5,8,10
    • Scoliosis is present in some children with JHS and may be related to poor postural control and stability.5 Of note, children with JHS are not at increased risk of having progression of idiopathic scoliosis.8

Specific secondary or associated conditions and complications

Some patients with JHS will go on to develop chronic low grade synovitis, which should not be misinterpreted as inflammatory arthritis.3

In the past, JHS was thought to be associated with increased risk for osteoarthritis later in life, but more recent studies challenge this association, and it is unclear whether GJH is a predisposing or protective factor for osteoarthritis.12

In adulthood, GJH is associated with increased risk of postural or mechanical back pain in professions that require prolonged sitting or standing, yet it is protective for professions that require frequent position changes.3

Hypermobile patients tend to have lower bone mineral density compared to controls, which may predispose them to fractures.3,12

Essentials of Assessment

Given JHS is a clinical diagnosis and a diagnosis of exclusion, the history and physical exam are critical to rule out other illnesses.2,5

History

It is important to determine extent of disease burden and to characterize timing of symptoms. With JHS symptoms tend to be self-resolving and associated with repetitive use or physical activity.

The clinician should inquire about musculoskeletal pain, joint hypermobility and subluxation, scoliosis, skin hyperextensibility, bruising, and fatigue.

Important history includes screening symptoms that may have been present from early childhood, evaluation for any developmental delays, and inclusion of pertinent family history.

Review of systems should be broad and include: neurologic (headaches, ataxia, impaired coordination), cardiovascular (palpitations, syncope, POTS, family history of sudden death), respiratory (spontaneous pneumothorax, pulmonary hypertension), gastrointestinal (early satiety, hernias, rectal prolapse), genitourinary (incontinence, uterine prolapse, cervical insufficiency), hematologic (easy bruising, varicose veins), psychologic (anxiety, depression, panic disorder, ADHD, sleep disturbance, restlessness).2,5

Physical examination

Having a Beighton score of ≥4 is one of the two major criteria used to diagnose someone with JHS. The Beighton score involves an assessment of generalized hypermobility with 1 point per finding out of 9 total points.

The Beighton score is a sum of the following criteria for a total of 9 points:

  • Ability to bend and place hands flat on the floor without bending knees (1 point)
  • Hyperextension of each knee beyond 10°   (1 point left, 1 point right)
  • Hyperextension of each elbow beyond 10° (1 point left, 1 point right)
  • Each thumb passive extension to touch the forearm (1 point left, 1 point right)
  • Each fifth digit passive extension beyond 90° (1 point left, 1 point right)

Symptomatic and asymptomatic joints should be examined for range of motion, tenderness, swelling, redness, and deformities.2 Frank swelling is rare although small noninflammatory effusions may be present with JHS.2

JHS patients may also have scoliosis, lordosis, pes planus, genu valgum, patellar hypermobility and subluxation, marfanoid habitus, varicose veins, rectal or uterine prolapse, and hyperextensible thin skin which should also be evaluated for on exam or through referral to the appropriate specialist.2,3,5,7

Functional assessment

Clinical assessment of gait and posture are important. The most common changes to gait include poor heel-toe strike, over-pronation at the ankle, flexion at the knees, flexion and internal rotation at the hips, and Trendelenburg gait.5 Sport specific assessments may also be helpful to allow children to participate fully and reintegrate into their communities.5

Balance and proprioception are often affected in JHS. They can be assessed grossly by asking a child to stand one leg at a time and observing postural sway both with and without visual input, or with more formal measures like the Pediatric Balance Scale or evaluating joint position sense.5,11

In children, handwriting difficulties are common (untidy or painful) and can be associated with general coordination problems and poor grip strength.5,10

Laboratory studies

As JHS is a clinical diagnosis and no confirmatory test exists. However, given it is also a diagnosis of exclusion, it is appropriate to rule out inflammatory, infectious, and autoimmune causes of joint swelling and arthralgia. It is reasonable to check CBC, ESR, RF, ANA, serum complement levels, serum immunoglobulin levels.5,7 Any results that are not within normal reference range suggest a diagnosis other than JHS.7

Imaging

Imaging is not required for diagnosis. However, x-ray and ultrasound imaging of symptomatic joints can be useful especially in the setting of trauma for athletes or performers to rule out fractures, acute ligament, and tendon injury.7

Because JHS patients tend to have lower bone mineral density that predispose them to fractures, bone densitometry can be evaluated by DEXA scan, especially in patients who have had prolonged periods of physical inactivity.3,12 However, this is not obtained routinely.

Supplemental assessment tools

  • Fatigue in JHS patients can be quantified using the Checklist Individual Strength.12
  • Sleep quality can be assessed with the Pittsburgh Sleep Quality Index or Epworth Sleepiness Scale.12
  • Health related quality of life in adults JHS, especially in research settings, is sometimes assessed with SF-36, but there are limited quality of life assessments designed for pediatric populations.14

Early predictions of outcomes

Early prediction of outcomes is difficult because there is significant variability in symptoms and severity of JHS.

Although taping and some braces may help increase proprioception at hypermobile joints, special equipment is generally not required. Provision of crutches or a wheelchair to young people with JHS should be avoided as this is damaging to the requirement of improving strength and maintaining function and encourages deconditioning that exacerbates symptoms and perceived helplessness.5,13

Environmental

Home, school, and sport environments are important to consider for psychosocial and functional therapies.

Social role and social support system

The severity of JHS is strongly affected by psychosocial factors. Children and their caregivers should be followed routinely to see how they are adjusting to their disability and to determine treatment efficacy. Referral to psychologic services and social work is often appropriate.

Professional issues

It is generally not recommended to diagnose children less than 5 years of age with JHS as most toddlers have ligamentous laxity.10

Some professionals dispute the use of “benign” in describing BJHS given the disorders impact on quality of life, and increasing providers are referring to the disorder as “joint hypermobility syndrome” JHS.10,14 Some experts consider JHS indistinguishable from hypermobile-type III EDS (hEDS), but JHS is diagnosed using the Brighton Criteria and hEDS with the Villefranche Criteria which use similar but not overlapping signs and symptoms.3,15 Both criteria were developed over a decade ago, and there have been suggestions of the need for revision of diagnostic criteria for JHS.15 “JHS” is preferred by some over “hEDS,” as unfamiliar providers may incorrectly presume the significant risks associated with EDS apply to patients with JHS as well.5

There is evidence that inappropriate diagnosis or inappropriate treatment can lead to iatrogenic injury.5,13,14 In a qualitative focus group of JHS patients in Denver, 38% reported having experienced a definite iatrogenic injury, and another 30% felt at an increased risk of injury directly related to their rehabilitation treatment.14 Some of the main contributing factors the focus group participants described that contributed to these injuries and negative perceptions include that physical therapists and other providers adhered to standard treatment protocols without adjusting for patient’s specific needs, that their providers were poorly educated about JHS, and that their providers were dismissive or incredulous of patients’ symptoms or diagnoses.14

Rehabilitation Management and Treatments

Available or current treatment guidelines

JHS is a nonprogressive and noninflammatory disorder, but it can still inhibit quality of life warranting its proper diagnosis and treatment.3,5,13 Most patients with JHS will not require any kind of systemic medication therapy.3 Aims of treatment are not to reduce the range of mobility of hypermobile joints.5 Instead, treatment focuses on improving the joint stability and control of hypermobile joints, effectively managing pain and other symptoms, improving function and quality of life, and encouraging proper body mechanics.2,3,5

At different disease stages

There are no defined disease stages of JHS. Treatment recommendations are individualized based on the severity and symptomology for each patient.

Targeted exercise therapy is the mainstay of therapy. Therapy is typically focused on increasing strength of muscle stabilizers around symptomatic joints, increasing joint proprioception, and on maintaining proper alignment through static and dynamic movements.2-5,13

Techniques in physiotherapy to improve proprioception include utilizing balance boards, biofeedback mechanisms, mirrors, training without visual perception, supportive joint taping, and supportive bracing/orthotics.2,5,7,11

Generally, abstaining from aggravating activities may improve symptoms,5,7 although total avoidance of physical activity leads to further decreased muscle mass and deconditioning which worsens symptoms.3,5,13 Overtraining, poor pacing, too many performances or competitions, and focusing on joint flexibility as opposed to joint stability and strengthening may all increase joint pain and risk of subsequent injury.7

Pain is a common complaint with JHS, and arthralgias and myalgias are the most common subtypes of pain subtype for patients with JHS.16

NSAIDs or acetaminophen have often been used for pain control in JHS. However, because JHS is noninflammatory, the use of NSAIDs for anything other than analgesia is disputed.5,13,17

There is no evidence supporting the use of opioids for the treatment of chronic pain related to JHS, and opioid use may negatively lead to increased central pain sensitization.2

It is important to teach the child and family effective pain management strategies including, active relaxation, distraction, guided imagery, and awareness of factors that increase pain.5

Sympathetic counseling and reassurance are strongly recommended, and sometimes cognitive behavioral therapy is necessary to relieve fear, anxiety, and reduce maladaptive behaviors.2,5,14,18 Many patients with JHS also have comorbid anxiety and panic disorder, so this should be monitored for and treated.7,18

Prognosis is generally good especially since joint laxity decreases with age.2 However, JHS is associated with increased risk of acute ligament and soft tissue injury, overuse injury, and chronic joint instability.7

Coordination of care

Evaluation and treatment of JHS should be multidisciplinary when available, and may involve primary care, physiatry, rheumatology, sports medicine, neurology, medical genetics, psychology, therapy services, and social work.5,7

Patient & family education

Education should focus on pain management strategies and protection of joints during functional and sporting activities. Reassurance should be provided that JHS is non-progressive and that symptoms especially related to hypermobile joints generally improve with age.2

Complete avoidance of physical activity and dependence of crutches or a wheelchair should be strongly discouraged as this worsens symptoms and has social consequences including limiting participation in the community.3,5,12

Close collaboration with psychology is often warranted, especially in the presence of maladaptive behaviors and functionally limiting fear and anxiety.5,7,18

Measurement of Treatment Outcomes

There are no specific recommended outcome measurements designed for JHS. In general, one does not expect joint laxity to improve with physical therapy, although joints targeted with strengthening and stabilizing therapies may have less dynamic hypermobility and instability.5

Translation into practice: practice “pearls”/performance improvement in practice (PIPs)/changes in clinical practice behaviors and skills

Joint Hypermobility Syndrome is distinct from generalized joint hypermobility and causes significantly reduced quality of life due to associated pain, fatigue, and other extra-articular symptoms.

JHS is both a clinical diagnosis and a diagnosis of exclusion, so it is important to rule out acute trauma, connective tissue disorders, and rheumatologic disorders.

There is wide phenotypic variability in JHS, but symptoms are typically nonprogressive and generally improve with treatment and overtime with age as hypermobility decreases.

Treatment of JHS should be individualized and focused on improving joint stability, increasing joint proprioception and control, effectively managing pain and other symptoms, encouraging proper body mechanics, and improving function and quality of life.

Cutting Edge/ Emerging and Unique Concepts and Practice

N/A

Gaps in the Evidence-Based Knowledge

There continues to be a significant lack of epidemiological and etiological data on JHS.

It is unclear whether there are meaningful identifiable subtypes of JHS such as “joint affected”, “athletic”, and “systemic”, and whether subtypes of JHS have varying outcomes such as responsiveness to specific types of therapy.10

The large heterogeneity among individuals with joint hypermobility with the wide range of associated extra-articular symptoms of JHS in the setting of outdated diagnostic criteria present challenges to the diagnosis and appropriate management of JHS.4,14,15 Multiple providers across different specialties have signaled the need for revision to the Brighton Criteria or for establishment of new criteria to diagnose JHS.15

References

  1. Covaci S, Farkas O, Cochino A. BENIGN JOINT HYPERMOBILITY SYNDROME. Revista română de reumatologie. 2017;26(1):38-40. doi:10.37897/RJR.2017.1.7
  2. Kumar B, M.D., Lenert P,M.D.PhD. Joint Hypermobility Syndrome: Recognizing a Commonly Overlooked Cause of Chronic Pain. Am J Med. 2017;130(6):640-647. doi:10.1016/j.amjmed.2017.02.013
  3. Lawrence A. Benign joint hypermobility syndrome. Indian journal of rheumatology. 2014;9:S33-S36. doi:10.1016/j.injr.2014.09.009
  4. Covaci S, Farkas O, Cochino A. BENIGN JOINT HYPERMOBILITY SYNDROME. Revista română de reumatologie. 2017;26(1):38-40. doi:10.37897/RJR.2017.1.7
  5. Maillard S, Pilkington C. Joint Hypermobility and Pain Syndromes in Children. Sawhney S, Aggarwal A, eds. Springer Singapore; 2017:569-583
  6. Russek LN, Errico DM. Prevalence, injury rate and, symptom frequency in generalized joint laxity and joint hypermobility syndrome in a “healthy” college population. Clin Rheumatol. 2015;35(4):1029-1039. doi:10.1007/s10067-015-2951-9
  7. Simpson MR. Benign joint hypermobility syndrome: evaluation, diagnosis, and management. J Am Osteopath Assoc. 2006;106(9):531-536
  8. REMVIG L, JENSEN DV, WARD RC. Epidemiology of general joint hypermobility and basis for the proposed criteria for benign joint hypermobility syndrome: review of the literature. J Rheumatol. 2007;34(4):804-809
  9. Boudreau PA, Steiman I, Mior S. Clinical management of benign joint hypermobility syndrome: a case series. Journal of the Canadian Chiropractic Association; J Can Chiropr Assoc. 2020;64(1):43-54
  10. Armon K. Musculoskeletal pain and hypermobility in children and young people: is it benign joint hypermobility syndrome? Arch Dis Child. 2015;100(1):2-3. doi:10.1136/archdischild-2014-306556
  11. Smith TO, Jerman E, Easton V, et al. Do people with benign joint hypermobility syndrome (BJHS) have reduced joint proprioception? A systematic review and meta-analysis. Rheumatol Int. 2013;33(11):2709-2716. doi:10.1007/s00296-013-2790-4
  12. Castori M, Colombi M. Generalized joint hypermobility, joint hypermobility syndrome and Ehlers-Danlos syndrome, hypermobility type. Am J Med Genet. 2015;169C; 2015(1):1-5. doi:10.1002/ajmg.c.31432
  13. Castori M, Morlino S, Celletti C, et al. Management of pain and fatigue in the joint hypermobility syndrome (a.k.a. Ehlers-Danlos syndrome, hypermobility type): Principles and proposal for a multidisciplinary approach. Am J Med Genet. 2012;158A(8):2055-2070. doi:10.1002/ajmg.a.35483
  14. Bovet C, Carlson M, Taylor M. Quality of life, unmet needs, and iatrogenic injuries in rehabilitation of patients with Ehlers-Danlos Syndrome hypermobility type/Joint Hypermobility Syndrome. Am J Med Genet. 2016;170A; 2016(8):2044-2051. doi:10.1002/ajmg.a.37774
  15. Remvig L, Engelbert RH, Berglund B, et al. Need for a consensus on the methods by which to measure joint mobility and the definition of norms for hypermobility that reflect age, gender and ethnic-dependent variation: is revision of criteria for joint hypermobility syndrome and Ehlers-Danlos syndrome hypermobility type indicated? Rheumatology (Oxford). 2011;50(6):1169-1171. doi:10.1093/rheumatology/ker140
  16. Castori M, Morlino S, Celletti C, et al. Management of pain and fatigue in the joint hypermobility syndrome (a.k.a. Ehlers-Danlos syndrome, hypermobility type): Principles and proposal for a multidisciplinary approach. Am J Med Genet. 2012;158A(8):2055-2070. doi:10.1002/ajmg.a.35483
  17. Simpson MR. Benign joint hypermobility syndrome: evaluation, diagnosis, and management. J Am Osteopath Assoc. 2006;106(9):531-536
  18. Sinibaldi L, Ursini G, Castori M. Psychopathological manifestations of joint hypermobility and joint hypermobility syndrome/ Ehlers–Danlos syndrome, hypermobility type: The link between connective tissue and psychological distress revised. Am J Med Genet. 2022;169(1):97-106. doi:https://doi-org.proxy.libraries.rutgers.edu/10.1002/ajmg.c.31430

Author Disclosure

Nova Hou, MD, MPH
Nothing to Disclose

Ziva Petrin, MD
Nothing to Disclose